Details for Gene DLX5

GENE NAME DLX5
CHROMOSOME 7
ENSEMBL ID ENSG00000105880
ENTREZ ID 1749
UNIPROT ACCESSION NUMBER P56178
GO MOLECULAR FUNCTION DNA-binding transcription activator activity, RNA polymerase II-specific; transcription cis-regulatory region binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; HMG box domain binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04550; hsa04550; R-HSA-73857; R-HSA-212436; R-HSA-8878166; R-HSA-74160; R-HSA-8939902
3 combinations linked to DLX5 OLI874; OLI864; OLI903
2 variants linked to DLX5 DLX5:c.505G>A, p.Glu169Lys; DLX5:c.593A>C, p.Asn198Thr
2 diseases linked to DLX5 Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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